Canonical Allele Identifier: CA370667665

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630271A>T (hg19) ; chr8:g.37772753A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772753A>T , CM000670.2:g.37772753A>T	GRCh38
NC_000008.10:g.37630271A>T , CM000670.1:g.37630271A>T	GRCh37
NC_000008.9:g.37749429A>T	NCBI36
NG_053030.1:g.16001A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.320-2A>T MANE Select	ENSP00000333551.3:n.320-2A>T
ENST00000328195.7:c.320-2A>T	ENSP00000333551.3:n.320-2A>T
ENST00000518036.5:c.*172-2A>T	ENSP00000428005.1:n.*172-2A>T
ENST00000521631.1:n.1A>T
ENST00000523187.5:c.164-2A>T	ENSP00000427886.1:n.164-2A>T
ENST00000523358.5:c.320-2A>T	ENSP00000427778.1:n.320-2A>T
ENST00000523521.1:c.77-2A>T	ENSP00000429425.1:n.77-2A>T
NM_007198.3:c.320-2A>T	NP_009129.1:n.320-2A>T
NM_001349346.1:c.320-2A>T	NP_001336275.1:n.320-2A>T
NM_001349347.1:c.314-2A>T	NP_001336276.1:n.314-2A>T
NM_001349348.1:c.164-2A>T	NP_001336277.1:n.164-2A>T
NM_007198.4:c.320-2A>T MANE Select	NP_009129.1:n.320-2A>T
NM_001349346.2:c.320-2A>T	NP_001336275.1:n.320-2A>T
NM_001349347.2:c.314-2A>T	NP_001336276.1:n.314-2A>T
NM_001349348.2:c.164-2A>T	NP_001336277.1:n.164-2A>T